A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179013



Internal ID21626522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134212454..134212454hg38UCSC Ensembl
chr5:133548145..133548145hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682039
Supporting Variants
Samples
Known GenesPPP2CA
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17179013
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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